Incidental Mutation 'IGL02694:Gykl1'
| ID |
303850 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gykl1
|
| Ensembl Gene |
ENSMUSG00000053624 |
| Gene Name |
glycerol kinase-like 1 |
| Synonyms |
Gk-rs1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.359)
|
| Stock # |
IGL02694
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
52826762-52828622 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52827257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 155
(H155R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066193]
|
| AlphaFold |
Q8C635 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066193
AA Change: H155R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000067598
Gene: ENSMUSG00000053624
AA Change: H155R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FGGY_N
|
12 |
266 |
6.8e-90 |
PFAM |
|
Pfam:FGGY_C
|
275 |
467 |
4.2e-66 |
PFAM |
|
transmembrane domain
|
524 |
546 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
A |
G |
7: 97,866,084 (GRCm39) |
I213T |
probably benign |
Het |
| Alox8 |
T |
A |
11: 69,077,455 (GRCm39) |
T432S |
probably damaging |
Het |
| Col4a3 |
T |
C |
1: 82,688,515 (GRCm39) |
|
probably benign |
Het |
| Cyp2c54 |
A |
G |
19: 40,035,987 (GRCm39) |
Y308H |
possibly damaging |
Het |
| Dscam |
A |
G |
16: 96,394,476 (GRCm39) |
V1942A |
probably benign |
Het |
| F11 |
T |
C |
8: 45,705,196 (GRCm39) |
Y115C |
probably damaging |
Het |
| Fam13b |
A |
G |
18: 34,584,259 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
T |
A |
14: 102,124,606 (GRCm39) |
V355D |
probably damaging |
Het |
| Lrtm2 |
T |
A |
6: 119,297,846 (GRCm39) |
D65V |
possibly damaging |
Het |
| Ly6g6f |
C |
T |
17: 35,300,144 (GRCm39) |
V235M |
possibly damaging |
Het |
| Mlxipl |
G |
A |
5: 135,152,872 (GRCm39) |
|
probably null |
Het |
| Or11j4 |
A |
G |
14: 50,630,257 (GRCm39) |
I15V |
probably benign |
Het |
| Or13a20 |
A |
G |
7: 140,232,093 (GRCm39) |
N67S |
probably damaging |
Het |
| Or14a256 |
C |
T |
7: 86,265,518 (GRCm39) |
V112I |
probably benign |
Het |
| Ppp2r1a |
A |
G |
17: 21,171,702 (GRCm39) |
|
probably benign |
Het |
| Psmb2 |
A |
G |
4: 126,603,351 (GRCm39) |
N193S |
probably benign |
Het |
| Rassf2 |
A |
T |
2: 131,851,641 (GRCm39) |
Y34N |
possibly damaging |
Het |
| Ryr2 |
A |
G |
13: 11,620,075 (GRCm39) |
F3841L |
probably damaging |
Het |
| Skint2 |
A |
G |
4: 112,473,792 (GRCm39) |
|
probably benign |
Het |
| Spdl1 |
T |
C |
11: 34,704,448 (GRCm39) |
I462V |
probably benign |
Het |
| Spopfm1 |
A |
G |
3: 94,173,459 (GRCm39) |
M152V |
probably benign |
Het |
| Tlk2 |
A |
G |
11: 105,112,061 (GRCm39) |
E138G |
probably benign |
Het |
| Vmn1r89 |
A |
G |
7: 12,954,056 (GRCm39) |
E196G |
probably benign |
Het |
| Zfp142 |
A |
G |
1: 74,609,307 (GRCm39) |
L1496P |
probably damaging |
Het |
| Zfp689 |
T |
C |
7: 127,047,573 (GRCm39) |
D94G |
possibly damaging |
Het |
| Zfp944 |
A |
G |
17: 22,558,899 (GRCm39) |
V116A |
probably benign |
Het |
|
| Other mutations in Gykl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01348:Gykl1
|
APN |
18 |
52,827,808 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0689:Gykl1
|
UTSW |
18 |
52,827,123 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0856:Gykl1
|
UTSW |
18 |
52,828,441 (GRCm39) |
makesense |
probably null |
|
|
R0908:Gykl1
|
UTSW |
18 |
52,828,441 (GRCm39) |
makesense |
probably null |
|
|
R1428:Gykl1
|
UTSW |
18 |
52,827,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2229:Gykl1
|
UTSW |
18 |
52,828,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5307:Gykl1
|
UTSW |
18 |
52,827,723 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5696:Gykl1
|
UTSW |
18 |
52,827,267 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6278:Gykl1
|
UTSW |
18 |
52,828,280 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8804:Gykl1
|
UTSW |
18 |
52,827,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF040:Gykl1
|
UTSW |
18 |
52,827,488 (GRCm39) |
missense |
probably benign |
0.06 |
|
RF041:Gykl1
|
UTSW |
18 |
52,827,488 (GRCm39) |
missense |
probably benign |
0.06 |
|
RF042:Gykl1
|
UTSW |
18 |
52,827,488 (GRCm39) |
missense |
probably benign |
0.06 |
|
RF044:Gykl1
|
UTSW |
18 |
52,827,488 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1088:Gykl1
|
UTSW |
18 |
52,827,237 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Gykl1
|
UTSW |
18 |
52,827,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Gykl1
|
UTSW |
18 |
52,828,204 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Posted On |
2015-04-16 |
Incidental Mutation